Gene Gene information from NCBI Gene database.
Entrez ID 55505
Gene name NOP10 ribonucleoprotein
Gene symbol NOP10
Synonyms (NCBI Gene)
CHINE2DKCB1NOLA3NOP10PPFBMFT9
Chromosome 15
Chromosome location 15q14
Summary This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also incl
miRNA miRNA information provided by mirtarbase database.
107
miRTarBase ID miRNA Experiments Reference
MIRT029941 hsa-miR-26b-5p Microarray 19088304
MIRT031870 hsa-miR-16-5p Proteomics 18668040
MIRT038200 hsa-miR-151a-5p CLASH 23622248
MIRT1189297 hsa-miR-105 CLIP-seq
MIRT1189298 hsa-miR-194 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0001522 Process Pseudouridine synthesis IEA
GO:0001522 Process Pseudouridine synthesis NAS 9843512
GO:0003723 Function RNA binding IPI 18082603
GO:0005515 Function Protein binding IPI 16601202, 23685356, 25416956, 25910212, 30021884, 31515488, 32296183, 33961781
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606471 14378 ENSG00000182117
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NPE3
Protein name H/ACA ribonucleoprotein complex subunit 3 (Nucleolar protein 10) (Nucleolar protein family A member 3) (snoRNP protein NOP10)
Protein function Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:32554502). This involves the isomerization of uridine such t
PDB 7BGB , 7TRC , 7V9A , 8OUE , 8OUF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04135 Nop10p 3 52 Nucleolar RNA-binding protein, Nop10p family Family
Sequence
Sequence length 64
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ribosome biogenesis in eukaryotes   Telomere Extension By Telomerase
rRNA modification in the nucleus and cytosol
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
93
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 Pathogenic rs1321378060 RCV003236697
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs200017156 RCV005896807
Cervical cancer Benign; Likely benign rs200017156 RCV005896808
Dyskeratosis congenita Likely benign; Benign; Uncertain significance rs746979721, rs422388, rs1890487224 RCV005385099
RCV002347962
RCV004488049
Dyskeratosis congenita, autosomal recessive 1 Uncertain significance; Likely benign; not provided; Conflicting classifications of pathogenicity; Benign rs748193565, rs1890485477, rs1890485969, rs2141228644, rs373843596, rs370894572, rs562412129, rs746979721, rs752083783, rs2141230426, rs1890511080, rs368082745, rs1042150335, rs2510094741, rs121908092
View all (37 more)
RCV001317644
RCV001340074
RCV001352516
RCV001362716
RCV001368203
RCV001362680
RCV001430931
RCV001448685
RCV001967923
RCV001998622
RCV002024627
RCV001936139
RCV003067407
RCV002659714
RCV000004500
RCV002659048
RCV002663720
RCV002745315
RCV002722072
RCV002711704
RCV002900273
RCV002909629
RCV003032816
RCV001084193
RCV000398067
RCV003503940
RCV003504191
RCV003504246
RCV003611849
RCV003612544
RCV003612327
RCV003612336
RCV000398103
RCV000374342
RCV000306780
RCV000331228
RCV000285526
RCV000310239
RCV000538557
RCV000276206
RCV000263141
RCV001116064
RCV000526147
RCV000541648
RCV000806271
RCV000798486
RCV000865303
RCV001435432
RCV001062894
RCV001119013
RCV001120987
RCV001120989
RCV001120990
RCV001117506
RCV001117507
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Associate 33288886
Dyskeratosis Congenita Associate 16427014, 17507419, 19036115, 29055871, 30728146
Dyskeratosis Congenita Autosomal Recessive Associate 17507419
Endometrial Neoplasms Associate 35054812
Leukemia Lymphocytic Chronic B Cell Associate 28666010
Lung Neoplasms Associate 33288886
Melanoma Associate 35085295
Polycystic Ovary Syndrome Stimulate 38243290
Stroke Associate 37358014
Telomeric 22q13 Monosomy Syndrome Associate 37440454